ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.700_702del (p.Tyr234del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000546.6(TP53):c.700_702del (p.Tyr234del)
Variation ID: 3232061 Accession: VCV003232061.1
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 17p13.1 17: 7674261-7674263 (GRCh38) [ NCBI UCSC ] 17: 7577579-7577581 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Feb 8, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.700_702del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Tyr234del inframe deletion NM_001126112.3:c.700_702del NP_001119584.1:p.Tyr234del inframe deletion NM_001126113.3:c.700_702del NP_001119585.1:p.Tyr234del inframe deletion NM_001126114.3:c.700_702del NP_001119586.1:p.Tyr234del inframe deletion NM_001126115.2:c.304_306del NP_001119587.1:p.Tyr102del inframe deletion NM_001126116.2:c.304_306del NP_001119588.1:p.Tyr102del inframe deletion NM_001126117.2:c.304_306del NP_001119589.1:p.Tyr102del inframe deletion NM_001126118.2:c.583_585del NP_001119590.1:p.Tyr195del inframe deletion NM_001276695.3:c.583_585del NP_001263624.1:p.Tyr195del inframe deletion NM_001276696.3:c.583_585del NP_001263625.1:p.Tyr195del inframe deletion NM_001276697.3:c.223_225del NP_001263626.1:p.Tyr75del inframe deletion NM_001276698.3:c.223_225del NP_001263627.1:p.Tyr75del inframe deletion NM_001276699.3:c.223_225del NP_001263628.1:p.Tyr75del inframe deletion NM_001276760.3:c.583_585del NP_001263689.1:p.Tyr195del inframe deletion NM_001276761.3:c.583_585del NP_001263690.1:p.Tyr195del inframe deletion NM_001407262.1:c.700_702del NP_001394191.1:p.Tyr234del inframe deletion NM_001407263.1:c.583_585del NP_001394192.1:p.Tyr195del inframe deletion NM_001407264.1:c.700_702del NP_001394193.1:p.Tyr234del inframe deletion NM_001407265.1:c.583_585del NP_001394194.1:p.Tyr195del inframe deletion NM_001407266.1:c.700_702del NP_001394195.1:p.Tyr234del inframe deletion NM_001407267.1:c.583_585del NP_001394196.1:p.Tyr195del inframe deletion NM_001407268.1:c.700_702del NP_001394197.1:p.Tyr234del inframe deletion NM_001407269.1:c.583_585del NP_001394198.1:p.Tyr195del inframe deletion NM_001407270.1:c.700_702del NP_001394199.1:p.Tyr234del inframe deletion NM_001407271.1:c.583_585del NP_001394200.1:p.Tyr195del inframe deletion NR_176326.1:n.729_731del non-coding transcript variant NC_000017.11:g.7674263_7674265del NC_000017.10:g.7577581_7577583del NG_017013.2:g.18288_18290del LRG_321:g.18288_18290del LRG_321t1:c.698_700del LRG_321p1:p.Tyr234del LRG_321t2:c.698_700del LRG_321:p.Tyr234del LRG_321t3:c.698_700del LRG_321p3:p.Tyr234del LRG_321t4:c.698_700del LRG_321p4:p.Tyr234del LRG_321t5:c.302_304del LRG_321p5:p.Tyr102del LRG_321t6:c.302_304del LRG_321p6:p.Tyr102del LRG_321t7:c.302_304del LRG_321p7:p.Tyr102del LRG_321t8:c.581_583del LRG_321p8:p.Tyr195del - Protein change
- Y102del, Y195del, Y234del, Y75del
- Other names
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- Canonical SPDI
- NC_000017.11:7674260:GTAGT:GT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3359 | 3458 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Likely pathogenic (1) |
criteria provided, single submitter
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Feb 8, 2024 | RCV004518776.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Feb 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005036106.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.700_702delTAC variant (also known as p.Y234del) is located in coding exon 6 of the TP53 gene. This variant results from an in-frame TAC deletion … (more)
The c.700_702delTAC variant (also known as p.Y234del) is located in coding exon 6 of the TP53 gene. This variant results from an in-frame TAC deletion at nucleotide positions 700 to 702. This results in the in-frame deletion of a tyrosine at codon 234. This amino acid position is well conserved in available vertebrate species and the impacted region is critical for protein function (Ambry internal data). In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.